Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
Chinese
Japanese
autosomal recessive woolly hair/hypotrichosis
lipase H
small-insertion mutation
Journal
The Journal of dermatology
ISSN: 1346-8138
Titre abrégé: J Dermatol
Pays: England
ID NLM: 7600545
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
18
01
2020
revised:
30
07
2020
accepted:
31
07
2020
pubmed:
10
9
2020
medline:
15
5
2021
entrez:
9
9
2020
Statut:
ppublish
Résumé
Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a rare form of congenital alopecia, which can be caused by mutations in lipase H (LIPH), lysophosphatidic acid receptor 6 (LPAR6/P2RY5) or keratin 25 (KRT25) genes. We present a 32-year-old woman with typical clinical features of ARWH. Hair microscopy was performed to observe differences between the patient's hair and a normal sample. Next-generation sequencing was used to detect pathogenic mutations. Sanger sequencing was used to further confirm the mutations. Abnormal hair appearance was found by hair microscopy. A novel frame-shift mutation (NM_139248: c.686delinsGTAGAACCCAACCTGGCT: p.Asp229fs37X) and a reported mutation (NM_139248: exon6:c.T736A: p.C246S) in LIPH were identified in the patient. All reported mutations related to ARWH of various races were reviewed. Our study provides further evidence of the similarity of ARWH between the Chinese and Japanese population. A novel small-insertion mutation also expands the LIPH mutation spectrum.
Identifiants
pubmed: 32901930
doi: 10.1111/1346-8138.15581
doi:
Substances chimiques
LPAR6 protein, human
0
Receptors, Lysophosphatidic Acid
0
Lipase
EC 3.1.1.3
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1445-1449Informations de copyright
© 2020 Japanese Dermatological Association.
Références
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